Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ONGOING

all patients

1st line – strict UVR and daylight protection and avoidance

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ONGOING
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all patients
1st line – 

strict UVR and daylight protection and avoidance

Strict and consistent ultraviolet radiation (UVR) and daylight protection and avoidance is the mainstay of treatment and can prevent many of the serious complications such as skin and ocular cancers in patients with XP.[2]​​[20][28][37][41]

Advise all patients to:

  • Ensure strict and consistent protection from outdoor light sources with protective clothing (e.g., wide-brimmed hats, gloves, long-sleeved shirts, trousers, UV-resistant face masks), sunglasses, and broad-spectrum sunscreen with a sun protection factor of at least 30, applied regularly (preferably every 2 hours)​[2][7][20][28]​​​​​[37]

  • Avoid outdoor light exposure during daylight hours, if possible[20][28]

  • Use UV-resistant films on windows in cars and buildings[7][37]​​

  • Measure indoor lighting UV levels with a light meter and replace or shield UV-emitting light bulbs.[7][23]​​​[28]

Plus – surveillance for cutaneous, ocular, and internal malignancies

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ONGOING
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all patients
Plus – 

surveillance for cutaneous, ocular, and internal malignancies

Treatment recommended for ALL patients in selected patient group

Follow-up for cutaneous and ocular lesions, by a dermatologist and an ophthalmologist, respectively, is recommended every 3-6 months.[2][28]

In addition to cutaneous and ocular malignancies, patients with XP are at increased risk of developing solid organ cancers (including tumours of the thyroid, lung, uterus, breast, pancreas, brain, stomach, kidney, and testicles) and haematological malignancies, such as leukaemia.[7][14][42]​​​​ Patients are also at higher risk of developing smoking-induced cancers.[14]​ A low threshold for investigation of these malignancies is recommended in all patients.[7][42]​​

Plus – genetic counselling

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ONGOING
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all patients
Plus – 

genetic counselling

Treatment recommended for ALL patients in selected patient group

As XP is inherited in an autosomal recessive pattern, genetic counselling is recommended for all patients.[2][7]​ This is especially important in a family with an affected child if parents are considering having more children. With each additional pregnancy, the risk of having another affected child, an asymptomatic heterozygous carrier, or a genetically unaffected child is 25%, 50%, and 25%, respectively.[7]

Molecular genetic testing of at-risk siblings allows early diagnosis and sun avoidance/protection from an early age.[7]

Consider – vitamin D supplementation

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ONGOING
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all patients
Consider – 

vitamin D supplementation

Additional treatment recommended for SOME patients in selected patient group

Due to strict UVR and daylight protection and avoidance measures, patients may have vitamin D deficiency.

Give supplemental vitamin D to those with low serum vitamin D concentrations.[7][28]

Advise patients to eat foods rich in vitamin D such as eggs, fish, or fortified foods.[7]

Regular follow-up by a nutritionist is recommended.[28]

Primary options

ergocalciferol: consult specialist for guidance on dose

OR

colecalciferol: consult specialist for guidance on dose

Plus – topical therapy or surgery

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ONGOING
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all patients
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with cutaneous neoplasms
Plus – 

topical therapy or surgery

Treatment recommended for ALL patients in selected patient group

Refer patients to a dermatologist for the management of premalignant lesions and malignant neoplasms. Once detected, premalignant cutaneous lesions such as actinic keratosis can be treated with liquid nitrogen, topical fluorouracil, or topical imiquimod. Less commonly used treatments include chemical peels or dermabrasion.[23][38]​​​ For more detailed information, see Actinic keratosis.

Malignant cutaneous neoplasms can be treated with photodynamic therapy, curettage with electrodessication, aggressive cryosurgery, surgical excision, or Mohs micrographic surgery, depending on the type of skin cancer.[7][39]​​ Recurrent malignancies or those in locations at high risk of recurrence can be treated with Mohs surgery.[23] For more detailed information, see Squamous cell carcinoma, Basal cell carcinoma, and Melanoma.

Chemoprevention of cutaneous malignancies should be considered on a case-by-case basis. This may include the use of topical imiquimod, topical fluorouracil, and oral retinoids such as isotretinoin and acitretin.[7] However, retinoids have many side-effects including a high teratogenic risk and they are contraindicated in pregnant women.[12][23][40]​​​

Plus – topical ophthalmic drops plus contact lens or cryotherapy or surgery

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ONGOING
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all patients
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with ocular lesions
Plus – 

topical ophthalmic drops plus contact lens or cryotherapy or surgery

Treatment recommended for ALL patients in selected patient group

Refer patients to an ophthalmologist for the management of ocular lesions. Eye involvement occurs in about 40% to 90% of patients with XP.[12][23][27]​

Keratitis can be managed with methylcellulose eye drops and soft UV-protective contact lens in order to lubricate the cornea and protect from trauma.[7][23] For more detailed information, see Keratitis.

Ocular malignancies occur in the areas most exposed to UVR such as the eyelids, conjunctiva, or cornea.[7][27]​ Once detected, ocular surface squamous neoplasia can be treated with intraoperative cryotherapy or surgical resection.[7]

Plus – supportive care

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ONGOING
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all patients
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with neurological sign/symptoms
Plus – 

supportive care

Treatment recommended for ALL patients in selected patient group

Refer patients with neurological signs and symptoms to a neurologist.

Worldwide, about 25% of patients experience progressive and irreversible neurological degeneration, including sensorineural hearing loss and cognitive impairment.[7][23]​​​​​​ Adult-onset neurodegeneration has been reported in patients with mutations in the XPF (ERCC4) gene.[30]​

There is no treatment for neurodegeneration. Patients may require supportive care in the form of hearing aids, speech therapy, and physical and occupational therapy.[7]

Regular follow-up by neurology and otorhinolaryngology for hearing loss and respiratory issues (e.g., choking, pneumonia) is recommended in patients with neurological disease.[2][7][28]

As neurodegeneration advances, other specialties will become involved, as needed. This may include orthopaedics for joint contractures and deformities of the foot.[2]​

Plus – gynaecological referral

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ONGOING
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all patients
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pubertal women after menarche
Plus – 

gynaecological referral

Treatment recommended for ALL patients in selected patient group

Women with XP (mostly XPC gene mutations) often develop premature menopause (before 40 years of age).[7][23]

Gynaecological referral is recommended for pubertal women with XP after menarche to discuss possible premature menopause and the option of preserving eggs for future pregnancies.[23]

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Choose a patient group to see our recommendations

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

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